Variant report

Variant	rs10811590
Chromosome Location	chr9:21708883-21708884
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10114559	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs10117244	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10757234	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10757257	0.83[GIH][hapmap]
rs10811585	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10811586	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10811587	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10811588	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10811589	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10811597	0.81[EUR][1000 genomes]
rs10811598	0.81[EUR][1000 genomes]
rs10965102	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10965106	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10965107	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10965108	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10965109	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10965117	0.81[EUR][1000 genomes]
rs1987458	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1987459	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1988757	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3900787	0.83[GIH][hapmap]
rs4615669	0.82[CEU][hapmap]
rs7029579	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7467016	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7469727	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs751158	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs896655	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv892743	chr9:21675545-21772064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv471290	chr9:21694038-21721939	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv892744	chr9:21694039-21746419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1837210	chr9:21700795-21729895	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10811590	MTAP	cis	parietal	SCAN
rs10811590	MTAP	cis	multi-tissue	Pritchard

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21707200-21712200	Enhancers	HMEC	breast
2	chr9:21707600-21710000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:21707600-21711000	Enhancers	NHEK	skin
4	chr9:21708000-21709600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr9:21708200-21709200	Enhancers	Fetal Stomach	stomach
6	chr9:21708200-21709200	Enhancers	NHDF-Ad	bronchial
7	chr9:21708200-21709400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:21708200-21709400	Enhancers	HSMMtube	muscle
9	chr9:21708400-21709200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:21708400-21709200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:21708400-21709600	Enhancers	A549	lung
12	chr9:21708400-21709600	Enhancers	Osteobl	bone
13	chr9:21708400-21713000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:21708600-21709000	Flanking Active TSS	HSMM	muscle
15	chr9:21708800-21709000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:21708800-21709000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:21708800-21709000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:21708800-21710600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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